Pleiotropic scaling of gene effects and the 'cost of complexity'

As perceived by Darwin, evolutionary adaptation by the processes of mutation and selection is difficult to understand for complex features that are the product of numerous traits acting in concert, for example the eye or the apparatus of flight. Typically, mutations simultaneously affect multiple phenotypic characters. This phenomenon is known as pleiotropy. The impact of pleiotropy on evolution has for decades been the subject of formal analysis. Some authors have suggested that pleiotropy can impede evolutionary progress (a so-called 'cost of complexity'). The plausibility of various phenomena attributed to pleiotropy depends on how many traits are affected by each mutation and on our understanding of the correlation between the number of traits affected by each gene substitution and the size of mutational effects on individual traits. Here we show, by studying pleiotropy in mice with the use of quantitative trait loci (QTLs) affecting skeletal characters, that most QTLs affect a relatively small subset of traits and that a substitution at a QTL has an effect on each trait that increases with the total number of traits affected. This suggests that evolution of higher organisms does not suffer a 'cost of complexity' because most mutations affect few traits and the size of the effects does not decrease with pleiotropy.     

玉米种皮和穗轴中总酚含量的QTL分析

利用黑玉米自交系SDM作为父本,与黄玉米自交系MO17杂交,构建F2∶3群体,对玉米种皮中总酚含量(PCP)和穗轴中的总酚含量(PCC)进行了QTL分析.结果表明:SDM种皮和穗轴中总酚含量均极显著高于MO17,种皮和穗轴中的总酚含量呈极显著正相关.与玉米种皮和穗轴中总酚含量相关的QTL各检测到4个,分布在第4,6,7,9,10共5条染色体上,增效基因均来自父本SDM.其中位于第6和第10染色体上的4个QTL对表型的贡献率最大.控制种皮中总酚含量的2个QTL PCP-6a和PCP-10b分别解释表型变异的13.00%和17.05%,所在的标记区间分别为mmc0523-umc2006和umc1506-bnlg1028,基因作用方式分别为部分显性和加性.控制穗轴中总酚含量的2个QTL PCC-6a和PCC-10a分别解释表型变异的12.20%和21.10%,所在的标记区间分别为umc1014-mmc0523和umc1506-bnlg1028,基因作用方式均为部分显性.位于第6和第10染色体上控制2个性状的QTL可能是一因多效的同一QTL,也可能是紧密连锁的不同QTL.     

Molecular dissection of plant height QTLs using recombinant inbred lines from hybrids between common wheat （Triticum aestivum L.） and spelt wheat （Triticum spelta L.）

In wheat, plant height is an important agronomic trait, and a number of quantitative trait loci (QTLs) controlling plant height have been located. In this study, using the conditional and unconditional QTL mapping methods, combined with data from five different growth stages over two years of field trials, the developmental behavior for plant height in wheat was dissected. Nine unconditional QTLs and 8 conditional QTLs were identified, of which 6 were detected by both methods. None of the 11 QTLs was detected at all of the 5 investigated developmental stages, but 7 QTLs were detected at certain stages in both years. Further analysis identified 9 unconditional QTLs at different stages, which could explain the phenotypic variation from 4.81% to 17.35%. It was noteworthy that one major QTL designated QHt-4B-2, which was located on chromosome 4B, was detected on May 18 and 25 in both years, and its genetic contributions to plant height ranged from 13.42% to 16.13%. Moreover, of the 8 conditional QTLs identified, six were detected in both years, in the order of QHt-3B→QHt-4B-1→QHt-4B-2→QHt-4D→QHt-5A and QHt-2B expressed at the same developmental stage. The results indicate that QTL expression during plant height development is selective and in a temporal order.     

影响小麦加工品质数量性状位点的研究

以M5和M16为亲本构建的重组自交系为材料,对影响小麦加工品质性状的数量性状位点（QTL）进行了研究．检测了群体中籽粒硬度、蛋白质含量、SDS沉降值、拉伸面积等品质性状,它们在群体中呈近似正态的连续分布,为多基因控制的数量性状．利用43个SSR标记和42个AFLP标记构建了相关染色体的分子连锁图．在1A、5D、6D染色体上分别检测到与籽粒硬度相关的QTL各1个,其中位于染色体5D上的Xgwn190对表型变异的贡献率最大,达62．5％,为主效基因;在1B和6A染色体上分别检测到与蛋白质含量相关的QTL各1个,它们对表型变异的贡献率分别为13．2％和15．6％;在染色体1B和3B上分别检测到与SDS沉降值相关的QTL各1个,贡献率最大（10．2％）的一个QTL位于3B染色体上靠近E37M61—286的区域;在1A、3B、5D染色体上分别检测到与拉伸面积相关的QTL各1个,其中5D染色体上的Xgwn190对表型的贡献率最大,为11．5％．     

Epistasis and balanced polymorphism influencing complex trait variation

Complex traits such as human disease, growth rate, or crop yield are polygenic, or determined by the contributions from numerous genes in a quantitative manner. Although progress has been made in identifying major quantitative trait loci (QTL), experimental constraints have limited our knowledge of small-effect QTL, which may be responsible for a large proportion of trait variation. Here, we identified and dissected a one-centimorgan chromosome interval in Arabidopsis thaliana without regard to its effect on growth rate, and examined the signature of historical sequence polymorphism among Arabidopsis accessions. We found that the interval contained two growth rate QTL within 210 kilobases. Both QTL showed epistasis; that is, their phenotypic effects depended on the genetic background. This amount of complexity in such a small area suggests a highly polygenic architecture of quantitative variation, much more than previously documented. One QTL was limited to a single gene. The gene in question displayed a nucleotide signature indicative of balancing selection, and its phenotypic effects are reversed depending on genetic background. If this region typifies many complex trait loci, then non-neutral epistatic polymorphism may be an important contributor to genetic variation in complex traits.     

A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.

HYPERKALAEMIC periodic paralysis (HYPP) is an autosomal dominant disease that results in episodic electrical inexcitability and paralysis of skeletal muscle. Electrophysiological data indicate that tetrodotoxin-sensitive sodium channels from muscle cells of HYPP-affected individuals show abnormal inactivation. Genetic analysis of nine HYPP families has shown tight linkage between the adult skeletal muscle sodium channel alpha-subunit gene on chromosome 17q and the disease (lod score, z = 24; recombination frequency 0 = 0), strongly suggesting that mutations of the alpha-subunit gene cause HYPP. We sequenced the alpha-subunit coding region isolated from muscle biopsies from affected (familial HYPP) and control individuals by cross-species polymerase chain reaction-mediated complementary DNA cloning. We have identified an A----G substitution in the patient's messenger RNA that causes a Met----Val change in a highly conserved region of the alpha-subunit, predicted to be in a transmembrane domain. This same change was found in a sporadic case of HYPP as a new mutation. We have therefore discovered a voltage-gated channel mutation responsible for a human genetic disease.     

玉米产量相关性状的QTL定位与剖析

玉米因其自身具有高产潜质而成为了当今世界最重要的粮食作物之一.玉米产量是复杂的数量性状,由许多主/微效基因控制,易受各种环境因素影响.果穗是玉米的主要收获器官,籽粒性状是玉米品质的重要体现,因此发掘玉米穗部性状和籽粒性状相关QTL对玉米的遗传改良,培育优质高产的玉米具有重要意义.本研究白刺包谷(P2)和妻染黄(P13)为亲本构建了包含152个家系的F2∶3作图群体,选择在两亲本间具有多态性的176个微卫星标记构建遗传图谱,对产量相关性状进行了单环境的QTL定位与分析.最终定位到了14个QTL,分布在除9号染色体外的其余9条染色体上,单个QTL可解释的表型变异率为4.9％～18.8％.值得注意的是,在6号染色体上的百粒重和穗行数的一致性QTL(qHKW06-1和qERN06-1)与8号染色体上的穗行数QTL(qERN08-1)是本研究中特有的,其中qERN08-1解释了12.4％的表型变异率.     

QTL analysis of flag leaf in barley （Hordeum vulgate L.） for morphological traits and chlorophyll content

To understand genetic patterns of the morphological and physiological traits in flag leaf of barley, a double haploid （DH） population derived from the parents Yerong and Franklin was used to determine quantitative trait loci （QTL） controlling length, width, length/width, and chlorophyll content of flag leaves. A total of 9 QTLs showing significantly additive effect were detected in 8 intervals on 5 chromosomes. The variation of individual QTL ranged from 1.9% to 20.2%. For chlorophyll content expressed as SPAD value, 4 QTLs were identified on chromosomes 2H, 3H and 6H; for leaf length and width, 2 QTLs located on chromosomes 5H and 7H, and 2 QTLs located on chromosome 5H were detected; and for length/width, I QTL was detected on chromosome 7H. The identification of these QTLs associated with the properties of flag leaf is useful for barley improvement in breeding programs.     

Predicting mutation outcome from early stochastic variation in genetic interaction partners

Many mutations, including those that cause disease, only have a detrimental effect in a subset of individuals. The reasons for this are usually unknown, but may include additional genetic variation and environmental risk factors. However, phenotypic discordance remains even in the absence of genetic variation, for example between monozygotic twins, and incomplete penetrance of mutations is frequent in isogenic model organisms in homogeneous environments. Here we propose a model for incomplete penetrance based on genetic interaction networks. Using Caenorhabditis elegans as a model system, we identify two compensation mechanisms that vary among individuals and influence mutation outcome. First, feedback induction of an ancestral gene duplicate differs across individuals, with high expression masking the effects of a mutation. This supports the hypothesis that redundancy is maintained in genomes to buffer stochastic developmental failure. Second, during normal embryonic development we find that there is substantial variation in the induction of molecular chaperones such as Hsp90 (DAF-21). Chaperones act as promiscuous buffers of genetic variation, and embryos with stronger induction of Hsp90 are less likely to be affected by an inherited mutation. Simultaneously quantifying the variation in these two independent responses allows the phenotypic outcome of a mutation to be more accurately predicted in individuals. Our model and methodology provide a framework for dissecting the causes of incomplete penetrance. Further, the results establish that inter-individual variation in both specific and more general buffering systems combine to determine the outcome inherited mutations in each individual.     

Identification and mapping of genes for improving yield from Chinese common wild rice (O. rufipogon Griff.) using advanced backcross QTL analysis

To identify useful genes from wild rice which have been lost or weakened in cultivated rice has become more and more important for modern breeding strategy. In this study, a BC4 population derived from 94W1, an acces-sion of common wild rice (Oryza rufipogon Griff.) from Dongxiang in Jiangxi Province of China, as the donor, and a high-yielding Indica cultivar (O. sativa L.), "Guichao 2", as the recipient, was used to identify quantitative trait loci (QTL) associated with yield and its components. Based on the analysis for the genotype of BC4F1 population with 87 SSR markers distributed throughout the genome and investigation of the plant height, yield and yield components of BC4F2, a total of 52 QTLs, were detected. Of 7 QTLs associated with grain yield per plant, 2 QTLs on chro-mosome 2 and chromosome 11 for grain yield, explaining 16% and 11% of the phenotypic variance respectively, were identified. The alleles from Dongxiang common wild rice in those two loci could increase the yield of "Guichao 2" by 25.9% and 23.2% respectively. The QTL on chromosome 2 increasing grain yield of cultivar is actually a major gene, which did not coincide with any previously published QTLs in rice.     

Detecting quantitative trait loci for water use efficiency in rice using a recombinant inbred line population

Breeding rice with high water use efficiency (WUE) can ameliorate water shortage through water-saving irrigation.However,WUE is a complex quantitative trait and very few studies have been conducted to measure WUE directly.In this study,a recombined inbred line population derived from a cross between an indica lowland rice and upland japonica rice was used to dissect the genetic control of WUE by fine-monitored water supply experiments.Quantitative trait loci (QTL) were scanned for 10 traits including heading date (HD),water-consumption per day (water/d),shoot weight gain per day (shootw/d),root weight gain per day (rootw/d),kernel weight gain per day (kernelw/d),average WUE at whole plant level (WUEwhole/d),average WUE for up-ground biomass (WUEup/d),average WUE for grain yield (WUEyield/d),average economic index (econindex/d),and average root/shoot ratio per day (ratio/d).The results show that most of the traits were significantly correlated to each other.Twenty-four QTL (LOD ≥ 2.0) were detected for econindex,econindex/d,WUEyield,WUEyield/d,WUEup,WUEup/d,WUEwhole,WUEwhole/d,kernelw,kernelw/d,rootw,and water/d by composite interval mapping.These QTLs are located on chromosomes 1,2,4,6,7,8,and 12.Individual QTLs accounted for 4.97%-10.78% of the phenotypic variation explained.Some of these QTLs overlapped with previously reported drought resistance QTLs detected in this population.These results provide useful information for further dissection of the genetic basis and marker-assisted selection of WUE in rice.     

Dynamic analysis of QTL for plant height at different developmental stages in maize （Zea mays L.）

Plantheightisoneofimportantagronomictraitsinmaizebreeding.Inthepastfewyears,toincreasetheplantingdensityandpreventplantsfromlodging,studiesonthegeneticmechanismofplantheightweregivengreatattentionto.Sincethe1990s,molecularmarkershaveprovidedapowerfultooltostudythetraitofplantheightatthemolecularlevel[1—3].Butmostofresearchforplantheightonlyfocusedondataatmaturestage.Tillnow,about70genesorQTLshavebeenlocated[4].Moreover,somegeneshavebeenevencloned[5—7].Duringthevege-tativegrowthperiod,plant…     

Dissecting anxiety-related QTLs in mice by univariate and multivariate mapping

To detect genes underlying anxiety-related traits in mice,we performed univariate and multivariate QTL mapping analyses of phenotypes obtained from 71 mice of the BXD recombinant inbred (RI) strains (n=528 mice) and their parental strains (C57BL/6J and DBA/2J).Separate and joint mapping analyses were carried out using a linkage map composed of 506 simple sequence repeats (SSRs).The main QTL effects,interactions between pairs of QTLs (epistasis),and their environmental interactions were estimated.The results showed that anxiety-related traits were influenced by multiple QTLs (five main effect QTLs and three epistatic QTLs).Ten potential anxiety-related candidate genes within the QTL intervals on chromosomes 5,13 and 15 were identified.Some of these genes have been reported previously to be associated with the anxiety response.Based on our results,it is suggested that the multivariate QTL mapping approach improves the statistical power for detecting QTL and the precision of parameter estimation.Moreover,multivariate mapping can also detect pleiotropic QTL effects.     

小麦株高性状的QTL定位分析

以国际小麦作图组织的重组自交系群体W7984×Opata85为材料,在两种不同试验环境(2009年天津东丽区、2009年天津西青区姚村)下,分析其亲本及114个株系群体的株高,并利用QTL作图软件WinQTLCart2.5和区间作图及复合区间作图方法,对控制小麦株高性状的QTL进行定位.共检测到4个与小麦株高相关的QT...     

Quantitative trait loci （QTLs） for quality traits related to protein and starch in wheat

Quality traits in wheat （Triticum aestirum L.） were studied by quantitative trait locus （QTL） analysis in a recombinant inbred line （RIL） population, a set of 131 lines derived from Chuan 35050 × Shannong 483 cross （ChSh）. Grains from RILs were assayed for 21 quality traits related to protein and starch. A total of 35 putative QTLs for 19 traits with a single QTL explaining 7.99-40.52% of phenotypic variations were detected on 10 chromosomes, 1D, 2A, 2D, 3B, 3D, 5A, 6A, 6B, 6D, and 7B. The additive effects of 30 QTLs were positive, contributed by Chuan 35050, the remaining 5 QTLs were negative with the additive effect contributed by Shannong 483. For protein traits, 15 QTLs were obtained and most of them were located on chromosomes 1 D, 3B and 6D, while 20 QTLs for starch traits were detected and most of them were located on chromosomes 3D, 6B and 7B. Only 7 QTLs for protein and starch traits were co-located in three regions on chromosomes 1D, 2A and 2D. These protein and starch trait QTLs showed a distinct distribution pattern in certain regions and chromosomes. Twenty-two QTLs were clustered in 6 regions of 5 chromosomes. Two QTL clusters for protein traits were located on chromosomes 1D and 3B, respectively, three clusters for starch traits on chromosomes 3D, 6B and 7B, and one cluster including protein and starch traits on chromosome 1D.     

Identification of quantitative trait loci affecting tolerance to low phosphorus in rice (Oryza Sativa L.)

Phosphorus (P)-deficiency in rice (Oryza.Sativa.L) may cause yield reductions.This research has been conducted to map quantitative trait loci (QTLs) for tolerance to low phosphorus stress in a doubled haploid (DH) population.By using the linkage map of this population,the QTLs for relative dry weight,relative P content and relative P utilization efficiency have been located.The results indicate that one RFLP marker located on chromosome 6 is closely associated with relative root dry weight,relative shoot dry weight and relative total dry weight,which explain 24.9%,20.5% and 25.2% of the total phenotypic variations,respectively.Two QTLs affect relative P uptake content,which account for 20.7% of the total phenotypic variations.One micro-effect QTL has been found to be associated with relative P utilization efficiency.It is suggested that the P uptake efficiency is more associated with P efficiency.Among the secondary physiological indices of P uptake efficiency,the root dry weight is more important than others.     

Identification of quantitative trait loci affecting tolerance to low phosphorus in rice (Oryza Sativa L.)

Phosphorus (P)-deficiency in rice (Oryza. Sativa. L) may cause yield reductions. This research has been conducted to map quantitative trait loci (QTLs) for tolerance to low phosphorus stress in a doubled haploid (DH) population. By using the linkage map of this population, the QTLs for relative dry weight, relative P content and relative P utilization efficiency have been located. The results indicate that one RFLP marker located on chromosome 6 is closely associated with relative root dry weight, relative shoot dry weight and relative total dry weight, which explain 24.9%, 20.5% and 25.2% of the total phenotypic variations, respectively. Two QTLs affect relative P uptake content, which account for 20.7% of the total phenotypic variations. One micro-effect QTL has been found to be associated with relative P utilization efficiency. It is suggested that the P uptake efficiency is more associated with P efficiency. Among the secondary physiological indices of P uptake efficiency, the root dry weight is more important than others.     

玉米穗部性状的QTL定位

以玉米自交系L26和095组配的Fz世代为定位群体,采用SSR分子标记技术构建了包括98个位点的连锁图谱,结合F2穗部性状的鉴定结果,利用复合区间作图法对秃尖长等8个穗部性状进行基因定位,共检出21个QTL.其中穗长检测到3个QTL;穗粗、穗行数分别检测到2个QTL;行粒数检测到3个QTL;轴粗检测到2个QTL;200粒质量检测到3个QTL;穗粒质量检测到6个QTL;秃尖长没有检测到QTL.检出的21个QTL中,有10个QTL的解释变异率超过了20%,表现为主效QTL效应.研究还发现,穗部性状QTL在玉米10条染色体上分布不均匀,且成簇分布.该试验中检测到的21个QTL中,有10个影响不同性状的QTL位于3个染色体区域.各个QTL位点上起增、减效作用的等位基因在亲本间分布不均匀.     

家畜育种中MAS的遗传标记与QTL

简要评述了在家畜育种中标记辅助选择（ＭＡＳ）所适用的遗传标记系统及对数量性状位点（ＱＴＬ）和标记的基本要求．对ＭＡＳ中遗传标记与ＱＴＬ的紧密连锁之意义进行了讨论，认为遗传标记与ＱＴＬ间的连锁程度是决定ＭＡＳ效能的关键因素．并简述了获得与ＱＴＬ紧密连锁之遗传标记的一般方法     

Analysis of rice blast resistance genes by QTL mapping

Resistance to rice blast pathogen mostly shows a quantitative trait controlled by several minor genes. Its complexity and the mutable characteristic of rice blast isolates both hinder the development of the blast resistance research. The article here tried to explore the resistance gene distribution on rice chromosomes and the way of function. Totally 124 QTLs have been identified against 20 isolates using Cartographer software with a ZYQ8/JX17 DH population, which separately are at 100 loci of 72 marker intervals on 12 rice chromosomes. Of them, 16 QTLs were determined by the isolate HB-97-36-1. 82 QTLs (66.13%) are from the resistant parent alleles, ZYQ8, while 42 QTLs (33.87%) are from the susceptible parent alleles, JX17. In comparison of their positions on chromosome, most QTLs are clustered together and distributed nearby the major genes especially the regions on chromosomes 1, 2, 8, 10 and 12. Each QTL could account for the resistance variation between 3~2%-68.64%. And, a positional QTL might display the resistance to several different isolates with different contributions.